Wolff D, Stutzin A
Departamento de Biología, Facultad de Ciencias, Universidad de Chile.
Arch Biol Med Exp. 1990 Dec;23(4):277-84.
Cystic Fibrosis (CF) is the most common lethal genetic autosomic disease in Caucasians. The disease expresses itself in airway and other epithelial cells as a defective chloride ion absorption and secretion. At least, an abnormal cAMP-dependent regulation of an apically located chloride channel has been proposed as the underlying molecular defect. The gene responsible for CF has been identified and predicted to encode a membrane protein termed cystic fibrosis transmembrane conductance regulator (CFTR). The functional role of the predicted protein remains unclear, although strong evidence suggest that it is directly or indirectly involved in regulation of the apical chloride permeability in epithelial cells. This review discusses the fundamental issues currently being investigated in CF.
囊性纤维化（CF）是白种人中最常见的致死性常染色体遗传病。该疾病在气道和其他上皮细胞中表现为氯离子吸收和分泌缺陷。至少，有人提出顶端定位的氯离子通道的异常cAMP依赖性调节是潜在的分子缺陷。导致CF的基因已被鉴定，并预测编码一种称为囊性纤维化跨膜传导调节因子（CFTR）的膜蛋白。尽管有强有力的证据表明该预测蛋白直接或间接参与上皮细胞顶端氯离子通透性的调节，但其功能作用仍不清楚。本文综述了目前在囊性纤维化研究中正在探讨的基本问题。
